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Article

Screening for new MTHFR polymorphisms and NTD risk.

American journal of medical genetics. Part A - 1 Oct 2005

O'Leary Valerie B, Mills James L, Parle-McDermott Anne, Pangilinan Faith, Molloy Anne M, Cox Christopher, Weiler Andrea, Conley Mary, Kirke Peadar N, Scott John M, Brody Lawrence C

Abstract excerpt

The enzyme, 5,10-methylenetetrahydrofolate reductase (MTHFR) plays a key role in cellular folate metabolism. The A222V (677C->T) polymorphism is a confirmed neural tube defect (NTD) risk factor within Irish and other populations. To search for other unknown single nucleotide polymorphisms (SNPs) that might play a role in the etiology of NTDs, we examined the entire MTHFR coding region in healthy individuals (n =...

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Identifiers

PMID: 16145688
DOI: 10.1002/ajmg.a.30846

Genes

MTHFR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Screening for new MTHFR polymorphisms and NTD risk.PMID 16145688Read ↗

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Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.Semantic proximity Read ↗

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Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population.Semantic proximity Read ↗

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